Mutagenetix > Incidental Mutation

Incidental Mutation 'R1863:Apobec3'

204158

Institutional Source

Beutler Lab

Gene Symbol

Apobec3

Ensembl Gene

ENSMUSG00000009585

Gene Name

apolipoprotein B mRNA editing enzyme, catalytic polypeptide 3

Synonyms

Rfv-3, Gm20117, Rfv3, CEM15

MMRRC Submission

039886-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1863 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79775860-79800107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79782068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 26 (D26G)

Ref Sequence

ENSEMBL: ENSMUSP00000134938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023054] [ENSMUST00000109620] [ENSMUST00000165537] [ENSMUST00000175714] [ENSMUST00000175752] [ENSMUST00000177350] [ENSMUST00000176904] [ENSMUST00000177483] [ENSMUST00000176325] [ENSMUST00000177098] [ENSMUST00000177006] [ENSMUST00000176868] [ENSMUST00000230135] [ENSMUST00000230741]

AlphaFold

Q99J72

Predicted Effect

probably benign
Transcript: ENSMUST00000023054
AA Change: D26G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023054
Gene: ENSMUSG00000009585
AA Change: D26G

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	1	99	6.5e-22	PFAM
Pfam:APOBEC_C	37	91	2.8e-23	PFAM
Pfam:APOBEC_N	106	276	4.4e-28	PFAM
Pfam:APOBEC_C	215	268	1.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109620
AA Change: D125G

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105249
Gene: ENSMUSG00000009585
AA Change: D125G

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	21	198	6.5e-37	PFAM
Pfam:APOBEC_C	136	190	4.9e-23	PFAM
low complexity region	203	213	N/A	INTRINSIC
Pfam:APOBEC_N	238	408	1.1e-27	PFAM
Pfam:APOBEC_C	347	400	2.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165537
AA Change: D125G

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000132391
Gene: ENSMUSG00000009585
AA Change: D125G

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	21	198	5.4e-37	PFAM
Pfam:APOBEC_C	136	190	4.3e-23	PFAM
Pfam:APOBEC_N	205	375	9e-28	PFAM
Pfam:APOBEC_C	314	367	2.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175714
AA Change: D136G

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135027
Gene: ENSMUSG00000009585
AA Change: D136G

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	37	206	1.1e-57	PFAM
Pfam:APOBEC_C	148	199	2e-22	PFAM
low complexity region	214	224	N/A	INTRINSIC
Pfam:APOBEC_N	253	416	7.6e-33	PFAM
Pfam:APOBEC_C	359	409	3.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175752
AA Change: D136G

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135358
Gene: ENSMUSG00000009585
AA Change: D136G

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	32	209	7.9e-37	PFAM
Pfam:APOBEC_C	147	201	6.3e-23	PFAM
Pfam:APOBEC_N	216	386	1.3e-27	PFAM
Pfam:APOBEC_C	325	378	3.3e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175849

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177350
AA Change: D26G

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134938
Gene: ENSMUSG00000009585
AA Change: D26G

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	1	99	1.6e-22	PFAM
Pfam:APOBEC_C	37	91	9.8e-24	PFAM
low complexity region	104	114	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176904
AA Change: D26G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135502
Gene: ENSMUSG00000009585
AA Change: D26G

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	1	84	7.4e-21	PFAM
Pfam:APOBEC_C	37	85	2.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177483
AA Change: D26G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135011
Gene: ENSMUSG00000009585
AA Change: D26G

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	1	99	1.3e-22	PFAM
Pfam:APOBEC_C	37	91	8.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176325
AA Change: D136G

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134838
Gene: ENSMUSG00000009585
AA Change: D136G

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	32	209	9e-37	PFAM
Pfam:APOBEC_C	147	201	6.8e-23	PFAM
low complexity region	214	224	N/A	INTRINSIC
Pfam:APOBEC_N	249	419	1.5e-27	PFAM
Pfam:APOBEC_C	358	411	3.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177098
AA Change: D136G

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135079
Gene: ENSMUSG00000009585
AA Change: D136G

Domain	Start	End	E-Value	Type
Pfam:APOBEC_N	31	209	6.8e-37	PFAM
Pfam:APOBEC_C	147	201	6e-23	PFAM
Pfam:APOBEC_N	216	386	1.2e-27	PFAM
Pfam:APOBEC_C	325	378	3.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176823

Predicted Effect

probably benign
Transcript: ENSMUST00000177006

Predicted Effect

probably benign
Transcript: ENSMUST00000176868

Predicted Effect

probably benign
Transcript: ENSMUST00000230135

Predicted Effect

probably benign
Transcript: ENSMUST00000230741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230410

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.0%
20x: 90.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3' UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele display more rapid and extensive spread of viral infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,527,746 (GRCm39)	S1015T	probably damaging	Het
Adamts10	T	A	17: 33,770,406 (GRCm39)		probably null	Het
Adgrv1	G	A	13: 81,711,685 (GRCm39)	T1097I	probably damaging	Het
Apeh	T	C	9: 107,969,302 (GRCm39)	Y274C	possibly damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Asb18	C	T	1: 89,942,104 (GRCm39)	V66I	probably benign	Het
Cacna1i	G	A	15: 80,243,132 (GRCm39)	G430S	probably damaging	Het
Cadps	A	G	14: 12,449,802 (GRCm38)	S1136P	possibly damaging	Het
Cadps	A	G	14: 12,505,796 (GRCm38)	V758A	probably benign	Het
Calhm3	A	G	19: 47,140,539 (GRCm39)	W185R	probably damaging	Het
Car5b	T	C	X: 162,774,369 (GRCm39)	D146G	probably damaging	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Cd300lg	T	G	11: 101,932,430 (GRCm39)	V5G	probably damaging	Het
Cd46	C	A	1: 194,765,931 (GRCm39)	G145C	probably damaging	Het
Chit1	T	C	1: 134,078,988 (GRCm39)	S433P	probably damaging	Het
Cntrl	G	A	2: 35,008,131 (GRCm39)	E182K	possibly damaging	Het
Col6a5	T	A	9: 105,817,400 (GRCm39)	M304L	unknown	Het
Cplane1	A	G	15: 8,258,077 (GRCm39)	I2108V	probably benign	Het
Cpxm2	C	T	7: 131,745,392 (GRCm39)		probably null	Het
Dbf4	G	A	5: 8,447,375 (GRCm39)	Q612*	probably null	Het
Dnah11	G	C	12: 118,027,587 (GRCm39)	Q1835E	possibly damaging	Het
Ehbp1l1	A	T	19: 5,767,882 (GRCm39)	N1140K	probably benign	Het
Eps8l1	C	A	7: 4,468,359 (GRCm39)		probably benign	Het
Fbxl21	A	T	13: 56,674,876 (GRCm39)	I76L	probably benign	Het
Gcnt2	A	T	13: 41,014,577 (GRCm39)	K249N	possibly damaging	Het
Gm5819	A	G	18: 8,694,179 (GRCm39)	T35A	probably benign	Het
Gm8180	T	C	14: 44,021,139 (GRCm39)	E23G	probably benign	Het
Gorab	A	G	1: 163,231,131 (GRCm39)	F8L	probably damaging	Het
Hlf	A	G	11: 90,231,652 (GRCm39)	L274S	probably damaging	Het
Il15ra	T	A	2: 11,728,247 (GRCm39)	S137T	possibly damaging	Het
Krt78	A	T	15: 101,855,004 (GRCm39)	C936S	possibly damaging	Het
Lamb2	T	C	9: 108,358,583 (GRCm39)	S207P	probably benign	Het
Lce1a1	T	C	3: 92,554,118 (GRCm39)	S119G	unknown	Het
Lipo3	A	G	19: 33,762,092 (GRCm39)	F135S	probably damaging	Het
Lrp4	T	A	2: 91,328,708 (GRCm39)	L1536Q	probably benign	Het
Lrrc25	T	C	8: 71,070,596 (GRCm39)	S126P	possibly damaging	Het
Mbd3l2	T	C	9: 18,356,217 (GRCm39)	S181P	possibly damaging	Het
Msantd5f6	A	T	4: 73,320,037 (GRCm39)	Y247*	probably null	Het
Mss51	C	T	14: 20,534,936 (GRCm39)	R278H	probably damaging	Het
Myom3	G	A	4: 135,505,348 (GRCm39)	M412I	probably benign	Het
Naa25	T	C	5: 121,573,611 (GRCm39)	V780A	probably benign	Het
Naip6	A	T	13: 100,437,067 (GRCm39)	F485L	probably benign	Het
Notch1	T	C	2: 26,359,962 (GRCm39)	Y1251C	probably damaging	Het
Npas3	A	G	12: 54,115,609 (GRCm39)	N826D	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2t47	T	C	11: 58,442,849 (GRCm39)	Y72C	probably benign	Het
Or4a74	A	T	2: 89,440,053 (GRCm39)	L131*	probably null	Het
Or4c35	A	T	2: 89,808,754 (GRCm39)	I211F	probably benign	Het
Or5p57	A	C	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or6c66	T	C	10: 129,461,217 (GRCm39)	T238A	probably damaging	Het
Or8c8	T	G	9: 38,165,016 (GRCm39)	M101R	probably damaging	Het
Or8s16	G	T	15: 98,211,372 (GRCm39)	Q20K	probably benign	Het
Osbpl6	G	A	2: 76,415,402 (GRCm39)	R588H	probably damaging	Het
Pcdhb17	A	T	18: 37,619,164 (GRCm39)	D318V	probably benign	Het
Pcnx2	T	A	8: 126,545,525 (GRCm39)	E1162V	probably damaging	Het
Pde2a	G	A	7: 101,160,361 (GRCm39)	R845H	probably damaging	Het
Pkhd1	G	T	1: 20,621,244 (GRCm39)	R805S	probably benign	Het
Ppl	T	C	16: 4,905,844 (GRCm39)	K1484E	possibly damaging	Het
Pramel7	T	C	2: 87,321,675 (GRCm39)	E120G	probably benign	Het
Prg4	T	A	1: 150,336,420 (GRCm39)	D60V	probably damaging	Het
Prpf6	T	A	2: 181,249,967 (GRCm39)	D42E	possibly damaging	Het
Rbm5	C	T	9: 107,627,718 (GRCm39)	V408I	possibly damaging	Het
Rsrp1	G	T	4: 134,651,388 (GRCm39)	D51Y	unknown	Het
Sec22a	A	G	16: 35,168,088 (GRCm39)	M141T	probably damaging	Het
Spryd3	A	G	15: 102,026,094 (GRCm39)	S417P	probably benign	Het
Sptbn2	A	G	19: 4,782,713 (GRCm39)	M550V	possibly damaging	Het
Sugt1	C	T	14: 79,846,434 (GRCm39)	T157I	probably damaging	Het
Syne4	T	C	7: 30,016,308 (GRCm39)	V168A	probably benign	Het
Tas2r122	A	T	6: 132,688,065 (GRCm39)	L276*	probably null	Het
Tbc1d14	G	A	5: 36,665,037 (GRCm39)	S231F	probably damaging	Het
Tenm3	T	A	8: 48,729,381 (GRCm39)	I1526F	probably benign	Het
Tgm2	C	T	2: 157,966,139 (GRCm39)	C505Y	probably damaging	Het
Thop1	T	C	10: 80,909,151 (GRCm39)	Y61H	probably damaging	Het
Ticam1	G	A	17: 56,578,436 (GRCm39)	H220Y	probably damaging	Het
Tle6	T	C	10: 81,427,755 (GRCm39)	D500G	possibly damaging	Het
Tm6sf2	T	A	8: 70,532,375 (GRCm39)	L345Q	probably damaging	Het
Tnxb	T	C	17: 34,889,848 (GRCm39)	C114R	probably damaging	Het
Topors	G	T	4: 40,262,149 (GRCm39)	C378*	probably null	Het
Ttc6	G	A	12: 57,760,881 (GRCm39)	G1544R	probably benign	Het
Vmn2r4	A	T	3: 64,314,410 (GRCm39)	N190K	probably benign	Het
Wdr70	C	A	15: 7,950,054 (GRCm39)	V447F	probably benign	Het
Xpa	A	G	4: 46,155,730 (GRCm39)		probably benign	Het
Xrcc1	T	C	7: 24,270,000 (GRCm39)	S474P	possibly damaging	Het
Zfp658	T	G	7: 43,223,323 (GRCm39)	F533V	possibly damaging	Het
Zfp799	G	A	17: 33,038,374 (GRCm39)	H631Y	probably damaging	Het

Other mutations in Apobec3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02529:Apobec3	APN	15	79,781,888 (GRCm39)	unclassified	probably benign
R1885:Apobec3	UTSW	15	79,781,906 (GRCm39)	missense	probably damaging	1.00
R3815:Apobec3	UTSW	15	79,783,301 (GRCm39)	missense	possibly damaging	0.95
R4175:Apobec3	UTSW	15	79,779,653 (GRCm39)	missense	probably damaging	1.00
R4677:Apobec3	UTSW	15	79,779,713 (GRCm39)	missense	probably damaging	0.99
R4780:Apobec3	UTSW	15	79,783,225 (GRCm39)	missense	possibly damaging	0.84
R5540:Apobec3	UTSW	15	79,782,120 (GRCm39)	missense	probably benign	0.01
R5830:Apobec3	UTSW	15	79,783,268 (GRCm39)	missense	possibly damaging	0.84
R5945:Apobec3	UTSW	15	79,782,047 (GRCm39)	missense	probably damaging	1.00
R6535:Apobec3	UTSW	15	79,781,950 (GRCm39)	makesense	probably null
R9222:Apobec3	UTSW	15	79,783,270 (GRCm39)	missense
R9280:Apobec3	UTSW	15	79,791,082 (GRCm39)	missense
R9594:Apobec3	UTSW	15	79,790,653 (GRCm39)	missense
X0066:Apobec3	UTSW	15	79,789,725 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCAAGAGTTCCCCTTTCGC -3'
(R):5'- AGTCTCCACAGTCCCTCAAG -3'

Sequencing Primer
(F):5'- CTCCGAGAGAAGAGTTCA -3'
(R):5'- ACAGTCCCTCAAGGCTGGTTC -3'

Posted On

2014-06-23